Article
Mutation analysis of Jewish Hunter patients in Israel.
Human mutation - 1 Jan 1994
Ben Simon-Schiff E, Bach G, Hopwood J J, Abeliovich D
Abstract excerpt
We have performed molecular and mutation analyses on 14 unrelated Israeli Hunter families and have identified the IDS mutation in 8 of them. Three unrelated Ashkenazi patients had the same previously reported mutation (1246 C-->T). Based on the haplotypes of the mutation-bearing chromosomes, we c...
Topics
- Amino Acid Sequence
- Base Sequence
- DNA Mutational Analysis
- Genetic Carrier Screening
- Genotype
- Haplotypes
- Humans
- Israel
- Jews
- Molecular Sequence Data
- Mucopolysaccharidosis II
- Phenotype
- Polymerase Chain Reaction
- Polymorphism, Single-Stranded Conformational